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rs1057516783

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516783(-;-)
Make rs1057516783(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position71438906
GeneDHCR7
is asnp
is mentioned by
dbSNPrs1057516783
dbSNP (old)rs1057516783
ClinGenrs1057516783
ebirs1057516783
HLIrs1057516783
Exacrs1057516783
Gnomadrs1057516783
Varsomers1057516783
Maprs1057516783
PheGenIrs1057516783
Biobankrs1057516783
1000 genomesrs1057516783
hgdprs1057516783
ensemblrs1057516783
gopubmedrs1057516783
geneviewrs1057516783
scholarrs1057516783
googlers1057516783
pharmgkbrs1057516783
gwascentralrs1057516783
openSNPrs1057516783
23andMers1057516783
23andMe allrs1057516783
SNPshotrs1057516783
SNPdbers1057516783
MSV3drs1057516783
GWAS Ctlgrs1057516783
Max Magnitude0
ClinVar
Risk rs1057516783(-;-)
Alt rs1057516783(-;-)
Reference Rs1057516783(T;T)
Significance Probable-Pathogenic
Disease Smith-Lemli-Opitz syndrome
Variation info
Gene DHCR7
CLNDBN Smith-Lemli-Opitz syndrome
Reversed 1
HGVS NC_000011.9:g.71149952delA
CLNSRC
CLNACC RCV000411261.1,